ClinVar Miner

List of variants reported as pathogenic for acroosteolysis by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_024408.4(NOTCH2):c.7198C>T (p.Arg2400Ter) rs1325403451 0.00001
NM_024408.4(NOTCH2):c.1668C>A (p.Cys556Ter) rs2101139955
NM_024408.4(NOTCH2):c.2235_2236del (p.Cys745_Asp746delinsTer) rs2101122493
NM_024408.4(NOTCH2):c.3415del (p.Leu1139fs) rs1557812162
NM_024408.4(NOTCH2):c.4025_4027delinsTCT (p.Cys1342_Gln1343delinsPheTer)
NM_024408.4(NOTCH2):c.4174C>T (p.Gln1392Ter) rs1649449471
NM_024408.4(NOTCH2):c.4810_4811del (p.Arg1604fs)
NM_024408.4(NOTCH2):c.5345del (p.Asp1782fs) rs1553193977
NM_024408.4(NOTCH2):c.5356C>T (p.Arg1786Ter)
NM_024408.4(NOTCH2):c.5664dup (p.Arg1889fs) rs927740391
NM_024408.4(NOTCH2):c.5987T>A (p.Leu1996Ter)
NM_024408.4(NOTCH2):c.6106C>T (p.Arg2036Ter)
NM_024408.4(NOTCH2):c.6343del (p.Ser2115fs)
NM_024408.4(NOTCH2):c.6403_6404del (p.Leu2135fs) rs1649067817
NM_024408.4(NOTCH2):c.6426_6427insTT (p.Glu2143fs) rs1649066485
NM_024408.4(NOTCH2):c.6449_6450del (p.Pro2150fs) rs1553193574
NM_024408.4(NOTCH2):c.6503del (p.Pro2168fs) rs1557802165
NM_024408.4(NOTCH2):c.6667C>T (p.Gln2223Ter)
NM_024408.4(NOTCH2):c.6787C>T (p.Gln2263Ter) rs886041862
NM_024408.4(NOTCH2):c.6909dup (p.Ile2304fs) rs771237928
NM_024408.4(NOTCH2):c.7030G>T (p.Glu2344Ter)
NM_024408.4(NOTCH2):c.7099C>T (p.Gln2367Ter)
NM_024408.4(NOTCH2):c.901G>T (p.Glu301Ter)

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